Reversible retinal edema in an infant with neonatal hemochromatosis and liver failure

We present a case of bilateral severe retinal edema with subretinal fluid in an infant diagnosed with neonatal hemochromatosis and liver failure. A macular cherry-red spot in each eye mimicked the clinical appearance of many metabolic storage diseases. Both the clinical retinal appearance and the an...

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Veröffentlicht in:	Journal of AAPOS 2011-02, Vol.15 (1), p.91-93
Hauptverfasser:	Maldonado, Ramiro S., MD, Freedman, Sharon F., MD, Cotten, C. Michael, MD, Ferranti, Jeffrey M., MD, MS, Toth, Cynthia A., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Functional Laterality Hemochromatosis - complications Hemochromatosis - diagnosis Hemochromatosis - surgery Humans Infant, Newborn Liver Failure - complications Liver Failure - diagnosis Liver Failure - surgery Liver Transplantation Macular Edema - diagnosis Macular Edema - etiology Macular Edema - physiopathology Male Ophthalmology Retinal Hemorrhage - diagnosis Retinal Hemorrhage - etiology Subretinal Fluid Tomography, Optical Coherence
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Zusammenfassung:	We present a case of bilateral severe retinal edema with subretinal fluid in an infant diagnosed with neonatal hemochromatosis and liver failure. A macular cherry-red spot in each eye mimicked the clinical appearance of many metabolic storage diseases. Both the clinical retinal appearance and the anatomic abnormalities observed on spectral domain optical coherence tomography resolved after successful liver transplant.
ISSN:	1091-8531 1528-3933
DOI:	10.1016/j.jaapos.2010.11.016